dbEM
A Database of Epigenetic Modifiers
Cite: Nanda JS, Kumar R, Raghava GP. (2016) dbEM: A database of epigenetic modifiers curated from cancerous and normal genomes. Sci Rep. 6:19340.
Protein: KDM5A |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 22RV1 PROSTATE c.1778C>T p.P593L CCLE PASSENGER/OTHER Benign 2 5637 URINARY TRACT c.417G>A p.W139* CCLE NP NP 3 ABC1 LUNG c.367_splice p.I123_splice CCLE NP NP 4 AN3CA ENDOMETRIUM c.1958T>C p.V653A CCLE PASSENGER/OTHER Benign 5 BICR18 UPPER AERODIGESTIVE TRACT c.4932_4933TC>CG p.P1645A CCLE PASSENGER/OTHER Benign 6 CMLT1 HAEMATOPOIETIC AND LYMPHOID TISSUE c.4300G>A p.V1434M CCLE PASSENGER/OTHER Probably Damaging 7 COLO792 SKIN c.5000C>T p.P1667L CCLE PASSENGER/OTHER Benign 8 CORL51 LUNG c.1776G>C p.L592F CCLE PASSENGER/OTHER Probably Damaging 9 DV90 LUNG c.3597_3597delA p.K1199fs CCLE NP NP 10 EN ENDOMETRIUM c.1124C>G p.S375C CCLE PASSENGER/OTHER Benign 11 EN ENDOMETRIUM c.4760_4761insA p.K1587fs CCLE NP NP 12 FADU UPPER AERODIGESTIVE TRACT c.3311A>G p.D1104G CCLE PASSENGER/OTHER Benign 13 GCIY STOMACH c.3590A>C p.Q1197P CCLE PASSENGER/OTHER Benign 14 HARA LUNG c.2758G>A p.D920N CCLE PASSENGER/OTHER Possibly Damaging 15 HCC1359 LUNG c.2826G>A p.M942I CCLE PASSENGER/OTHER Benign 16 HCC366 LUNG c.3005G>A p.R1002Q CCLE PASSENGER/OTHER Possibly Damaging 17 HCT116 LARGE INTESTINE c.3597_3597delA p.K1199fs CCLE NP NP 18 HDLM2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2216A>G p.Y739C CCLE PASSENGER/OTHER Probably Damaging 19 HEC151 ENDOMETRIUM c.1214T>C p.V405A CCLE PASSENGER/OTHER Possibly Damaging 20 HEC251 ENDOMETRIUM c.4208C>A p.S1403Y CCLE PASSENGER/OTHER Probably Damaging 21 HEC265 ENDOMETRIUM c.3597_3597delA p.K1199fs CCLE NP NP 22 HEC6 ENDOMETRIUM c.3597_3597delA p.K1199fs CCLE NP NP 23 HEC6 ENDOMETRIUM c.4544A>G p.Q1515R CCLE PASSENGER/OTHER Benign 24 HEC6 ENDOMETRIUM c.544C>T p.Q182* CCLE NP NP 25 HS616T HAEMATOPOIETIC AND LYMPHOID TISSUE c.3197C>G p.S1066C CCLE PASSENGER/OTHER Probably Damaging 26 HS695T SKIN c.3989C>T p.S1330F CCLE PASSENGER/OTHER Possibly Damaging 27 HS698T LARGE INTESTINE c.3083C>T p.A1028V CCLE PASSENGER/OTHER Benign 28 HSC2 UPPER AERODIGESTIVE TRACT c.4415C>A p.T1472K CCLE PASSENGER/OTHER Probably Damaging 29 HT115 LARGE INTESTINE c.1024G>A p.A342T CCLE PASSENGER/OTHER Possibly Damaging 30 HT115 LARGE INTESTINE c.2542_splice p.N848_splice CCLE NP NP 31 HT115 LARGE INTESTINE c.4048C>T p.R1350* CCLE NP NP 32 HT115 LARGE INTESTINE c.491G>T p.R164I CCLE PASSENGER/OTHER Probably Damaging 33 HT HAEMATOPOIETIC AND LYMPHOID TISSUE c.466T>C p.S156P CCLE PASSENGER/OTHER Probably Damaging 34 JHUEM2 ENDOMETRIUM c.4796G>T p.G1599V CCLE PASSENGER/OTHER Probably Damaging 35 JHUEM7 ENDOMETRIUM c.512T>G p.L171R CCLE PASSENGER/OTHER Benign 36 KM12 LARGE INTESTINE c.3197C>G p.S1066C CCLE PASSENGER/OTHER Probably Damaging 37 KM12 LARGE INTESTINE c.3597_3597delA p.K1199fs CCLE NP NP 38 KMS12BM HAEMATOPOIETIC AND LYMPHOID TISSUE c.2531G>A p.R844Q CCLE PASSENGER/OTHER Possibly Damaging 39 KYSE520 OESOPHAGUS c.3844C>T p.R1282C CCLE PASSENGER/OTHER Probably Damaging 40 LNCAPCLONEFGC PROSTATE c.1906T>C p.C636R CCLE PASSENGER/OTHER Benign 41 LNCAPCLONEFGC PROSTATE c.3597_3597delA p.K1199fs CCLE NP NP 42 LS180 LARGE INTESTINE c.227G>A p.R76H CCLE PASSENGER/OTHER Probably Damaging 43 LS411N LARGE INTESTINE c.3597_3597delA p.K1199fs CCLE NP NP 44 MDAMB435S SKIN c.4933C>T p.P1645S CCLE PASSENGER/OTHER Benign 45 MFE319 ENDOMETRIUM c.3597_3597delA p.K1199fs CCLE NP NP 46 MOLP2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3590A>C p.Q1197P CCLE PASSENGER/OTHER Benign 47 MOLP2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.88A>G p.T30A CCLE PASSENGER/OTHER Benign 48 NALM6 HAEMATOPOIETIC AND LYMPHOID TISSUE c.3151C>T p.R1051W CCLE PASSENGER/OTHER Probably Damaging 49 NB1 AUTONOMIC GANGLIA c.1817G>T p.R606M CCLE PASSENGER/OTHER Possibly Damaging 50 NCIH1568 LUNG c.-123C>T CCLE NP NP 51 NCIH1623 LUNG c.3076T>A p.L1026M CCLE PASSENGER/OTHER Probably Damaging 52 NCIH1781 LUNG c.703G>C p.E235Q CCLE PASSENGER/OTHER Probably Damaging 53 NCIH2342 LUNG c.871G>T p.V291F CCLE PASSENGER/OTHER Probably Damaging 54 NCIH358 LUNG c.3786G>T p.Q1262H CCLE PASSENGER/OTHER Probably Damaging 55 NCIH650 LUNG c.1917G>T p.L639F CCLE PASSENGER/OTHER Benign 56 NCIH727 LUNG c.224A>G p.Q75R CCLE PASSENGER/OTHER Probably Damaging 57 NCIH929 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1288A>G p.K430E CCLE PASSENGER/OTHER Benign 58 OC316 OVARY c.3413T>C p.I1138T CCLE PASSENGER/OTHER Benign 59 OVK18 OVARY c.3597_3597delA p.K1199fs CCLE NP NP 60 PK45H PANCREAS c.1999G>C p.E667Q CCLE PASSENGER/OTHER Possibly Damaging 61 REH HAEMATOPOIETIC AND LYMPHOID TISSUE c.3597_3597delA p.K1199fs CCLE NP NP 62 RERFLCAD1 LUNG c.1588C>T p.P530S CCLE PASSENGER/OTHER Probably Damaging 63 SNU1040 LARGE INTESTINE c.2155C>T p.R719C CCLE PASSENGER/OTHER Probably Damaging 64 SNU1040 LARGE INTESTINE c.3205A>G p.T1069A CCLE PASSENGER/OTHER Benign 65 SNU1040 LARGE INTESTINE c.3398G>A p.R1133Q CCLE PASSENGER/OTHER Possibly Damaging 66 SNU1040 LARGE INTESTINE c.4400G>A p.R1467Q CCLE PASSENGER/OTHER Probably Damaging 67 SNU1077 ENDOMETRIUM c.2296A>T p.M766L CCLE PASSENGER/OTHER Benign 68 SNU1197 LARGE INTESTINE c.4282C>T p.R1428* CCLE NP NP 69 SNU175 LARGE INTESTINE c.1406C>T p.P469L CCLE PASSENGER/OTHER Probably Damaging 70 SNU175 LARGE INTESTINE c.3597_3597delA p.K1199fs CCLE NP NP 71 SNU175 LARGE INTESTINE c.659G>A p.R220H CCLE PASSENGER/OTHER Probably Damaging 72 SNU349 KIDNEY c.1282C>T p.R428W CCLE PASSENGER/OTHER Probably Damaging 73 SNU423 LIVER c.2296A>T p.M766L CCLE PASSENGER/OTHER Benign 74 SNU503 LARGE INTESTINE c.88A>G p.T30A CCLE PASSENGER/OTHER Benign 75 SNU520 STOMACH c.1943G>A p.R648Q CCLE PASSENGER/OTHER Benign 76 SNU620 STOMACH c.2639T>C p.M880T CCLE PASSENGER/OTHER Benign 77 SNU81 LARGE INTESTINE c.2345G>A p.R782Q CCLE PASSENGER/OTHER Benign 78 SNU81 LARGE INTESTINE c.4250G>T p.R1417M CCLE PASSENGER/OTHER Probably Damaging 79 SNU81 LARGE INTESTINE c.4468G>T p.E1490* CCLE NP NP 80 SNUC4 LARGE INTESTINE c.3597_3598insA p.K1199fs CCLE NP NP 81 SNUC5 LARGE INTESTINE c.3597_3598insA p.K1199fs CCLE NP NP 82 T98G CENTRAL NERVOUS SYSTEM c.3503A>G p.K1168R CCLE PASSENGER/OTHER Benign 83 TE6 OESOPHAGUS c.1835C>T p.S612L CCLE PASSENGER/OTHER Probably Damaging 84 TE6 OESOPHAGUS c.2059G>A p.A687T CCLE PASSENGER/OTHER Probably Damaging 85 TOV21G OVARY c.2274_2274delA p.K758fs CCLE NP NP 86 VMRCLCD LUNG c.4031A>T p.D1344V CCLE PASSENGER/OTHER Probably Damaging 87 587228 LARGE INTESTINE c.2086C>T p.R696W COSMIC PASSENGER/OTHER Probably Damaging 88 587228 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 89 587238 LARGE INTESTINE c.1406C>A p.P469Q COSMIC PASSENGER/OTHER Probably Damaging 90 587238 LARGE INTESTINE c.4537C>T p.R1513W COSMIC NP NP 91 587286 LARGE INTESTINE c.1115A>C p.N372T COSMIC PASSENGER/OTHER Benign 92 587342 LARGE INTESTINE c.541G>A p.V181M COSMIC PASSENGER/OTHER Benign 93 587376 LARGE INTESTINE c.4773A>C p.K1591N COSMIC NP NP 94 761 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2758G>T p.D920Y COSMIC PASSENGER/OTHER Probably Damaging 95 761-01-1TD HAEMATOPOIETIC AND LYMPHOID TISSUE c.2758G>T p.D920Y COSMIC PASSENGER/OTHER Probably Damaging 96 ESO-081 OESOPHAGUS c.820G>A p.A274T COSMIC PASSENGER/OTHER Probably Damaging 97 ESO-139 OESOPHAGUS c.1268C>T p.P423L COSMIC PASSENGER/OTHER Probably Damaging 98 GC8_T STOMACH c.3747G>A p.L1249L COSMIC NP NP 99 H358 LUNG c.3786G>T p.Q1262H COSMIC PASSENGER/OTHER Probably Damaging 100 H650 LUNG c.1917G>T p.L639F COSMIC PASSENGER/OTHER Benign 101 HCC2998 LARGE INTESTINE c.4499A>C p.K1500T COSMIC NP NP 102 HOP-92 LUNG c.3365A>G p.D1122G COSMIC PASSENGER/OTHER Probably Damaging 103 ID51 HAEMATOPOIETIC AND LYMPHOID TISSUE c.965G>A p.C322Y COSMIC CANCER Probably Damaging 104 LUAD-E00934 LUNG c.3660G>T p.R1220S COSMIC PASSENGER/OTHER Probably Damaging 105 LUAD-RT-S01703 LUNG c.1864G>T p.A622S COSMIC PASSENGER/OTHER Benign 106 LUAD-YINHD LUNG c.2908A>T p.S970C COSMIC PASSENGER/OTHER Probably Damaging 107 LUAD_E00522 LUNG c.659G>T p.R220L COSMIC PASSENGER/OTHER Possibly Damaging 108 LUAD_E00565 LUNG c.4150G>A p.E1384K COSMIC PASSENGER/OTHER Probably Damaging 109 MD-289 CENTRAL NERVOUS SYSTEM c.2718A>C p.E906D COSMIC PASSENGER/OTHER Benign 110 ME009T SKIN c.4148C>T p.S1383F COSMIC PASSENGER/OTHER Probably Damaging 111 ME011T SKIN c.4366G>A p.V1456I COSMIC NP NP 112 ME024T NS c.4261C>T p.P1421S COSMIC NP NP 113 ME050T SKIN c.3568C>T p.P1190S COSMIC CANCER Benign 114 ME050T SKIN c.3781C>T p.R1261W COSMIC PASSENGER/OTHER Probably Damaging 115 MZ7-mel SKIN c.3230_3231insC p.T1078fs*12 COSMIC NP NP 116 NB-1659 AUTONOMIC GANGLIA c.3083C>T p.A1028V COSMIC PASSENGER/OTHER Benign 117 NB-1977 AUTONOMIC GANGLIA c.3219G>T p.V1073V COSMIC NP NP 118 NB02C AUTONOMIC GANGLIA c.1810C>T p.R604C COSMIC PASSENGER/OTHER Probably Damaging 119 P09-120 PROSTATE c.1703G>A p.R568H COSMIC PASSENGER/OTHER Probably Damaging 120 PD3189a SALIVARY GLAND c.2928C>A p.S976R COSMIC PASSENGER/OTHER Benign 121 PD4113a BREAST c.95delC p.P32fs*34 COSMIC NP NP 122 PD4120a BREAST c.1303G>A p.E435K COSMIC PASSENGER/OTHER Benign 123 PD4203a NS c.551C>T p.P184L COSMIC PASSENGER/OTHER Benign 124 PR-2915 PROSTATE c.744T>A p.V248V COSMIC NP NP 125 RK002_C01 LIVER c.4395C>A p.D1465E COSMIC NP NP 126 S00472 LUNG c.3693A>G p.V1231V COSMIC NP NP 127 SW620 LARGE INTESTINE c.920A>C p.K307T COSMIC PASSENGER/OTHER Possibly Damaging 128 T90 PROSTATE c.2033_2044del12 p.R680_C683delRTTC COSMIC NP NP 129 TARGET-30-PARDYU AUTONOMIC GANGLIA c.5121C>A p.F1707L COSMIC NP NP 130 TARGET-30-PARKAG AUTONOMIC GANGLIA c.1810C>T p.R604C COSMIC PASSENGER/OTHER Probably Damaging 131 TCGA-05-4420-01 LUNG c.31G>C p.A11P COSMIC PASSENGER/OTHER Possibly Damaging 132 TCGA-05-5428-01 LUNG c.313C>G p.L105V COSMIC PASSENGER/OTHER Benign 133 TCGA-09-2049-01 OVARY c.3685C>T p.L1229F COSMIC PASSENGER/OTHER Probably Damaging 134 TCGA-18-3409-01 LUNG c.402C>A p.T134T COSMIC NP NP 135 TCGA-21-1081-01 LUNG c.1658A>G p.Y553C COSMIC PASSENGER/OTHER Benign 136 TCGA-29-1694-01 OVARY c.1963C>G p.Q655E COSMIC PASSENGER/OTHER Benign 137 TCGA-30-1718-01 OVARY c.4357C>T p.L1453F COSMIC NP NP 138 TCGA-33-4532-01 LUNG c.1076G>T p.R359L COSMIC PASSENGER/OTHER Possibly Damaging 139 TCGA-34-5236-01 LUNG c.4848A>C p.A1616A COSMIC NP NP 140 TCGA-39-5024-01 LUNG c.190G>C p.E64Q COSMIC PASSENGER/OTHER Benign 141 TCGA-43-5668-01 LUNG c.790C>T p.R264* COSMIC NP NP 142 TCGA-44-2662-01 LUNG c.3649C>T p.R1217W COSMIC PASSENGER/OTHER Probably Damaging 143 TCGA-46-3769-01 LUNG c.2775G>C p.L925L COSMIC NP NP 144 TCGA-49-4510-01 LUNG c.1528G>T p.A510S COSMIC PASSENGER/OTHER Benign 145 TCGA-51-4081-01 LUNG c.3721C>T p.P1241S COSMIC PASSENGER/OTHER Probably Damaging 146 TCGA-55-5899-01 LUNG c.2628G>A p.M876I COSMIC PASSENGER/OTHER Benign 147 TCGA-66-2757-01 LUNG c.4208C>T p.S1403F COSMIC PASSENGER/OTHER Probably Damaging 148 TCGA-66-2778-01 LUNG c.469C>G p.L157V COSMIC PASSENGER/OTHER Benign 149 TCGA-66-2778-01 LUNG c.498C>G p.L166L COSMIC NP NP 150 TCGA-78-7155-01 LUNG c.3270G>A p.R1090R COSMIC NP NP 151 TCGA-78-7539-01 LUNG c.2763C>T p.V921V COSMIC NP NP 152 TCGA-91-6835-01 LUNG c.973C>T p.P325S COSMIC CANCER Probably Damaging 153 TCGA-A5-A0GI-01 ENDOMETRIUM c.4538G>A p.R1513Q COSMIC NP NP 154 TCGA-A6-3809-01 LARGE INTESTINE c.3278T>C p.V1093A COSMIC PASSENGER/OTHER Benign 155 TCGA-A6-6653-01 LARGE INTESTINE c.3601T>C p.S1201P COSMIC PASSENGER/OTHER Benign 156 TCGA-A6-6780-01 LARGE INTESTINE c.3982G>A p.V1328M COSMIC PASSENGER/OTHER Benign 157 TCGA-AA-3510-01 LARGE INTESTINE c.570A>C p.E190D COSMIC PASSENGER/OTHER Benign 158 TCGA-AA-3715-01 LARGE INTESTINE c.3766T>C p.W1256R COSMIC PASSENGER/OTHER Probably Damaging 159 TCGA-AA-3966-01 LARGE INTESTINE c.5042A>T p.E1681V COSMIC NP NP 160 TCGA-AA-3977-01 LARGE INTESTINE c.1696T>A p.F566I COSMIC PASSENGER/OTHER Probably Damaging 161 TCGA-AA-3977-01 LARGE INTESTINE c.3619G>T p.E1207* COSMIC NP NP 162 TCGA-AA-3984-01 LARGE INTESTINE c.333G>A p.E111E COSMIC NP NP 163 TCGA-AA-3984-01 LARGE INTESTINE c.4527G>A p.K1509K COSMIC NP NP 164 TCGA-AA-A00N-01 LARGE INTESTINE c.4150G>A p.E1384K COSMIC PASSENGER/OTHER Probably Damaging 165 TCGA-AA-A010-01 LARGE INTESTINE c.4619A>T p.K1540M COSMIC NP NP 166 TCGA-AA-A029-01 LARGE INTESTINE c.3710C>T p.P1237L COSMIC PASSENGER/OTHER Probably Damaging 167 TCGA-AD-6964-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 168 TCGA-AG-A002-01 LARGE INTESTINE c.1456G>A p.D486N COSMIC PASSENGER/OTHER Probably Damaging 169 TCGA-AG-A002-01 LARGE INTESTINE c.2473G>T p.E825* COSMIC NP NP 170 TCGA-AG-A002-01 LARGE INTESTINE c.3715C>T p.R1239W COSMIC PASSENGER/OTHER Probably Damaging 171 TCGA-AG-A002-01 LARGE INTESTINE c.713A>C p.K238T COSMIC PASSENGER/OTHER Benign 172 TCGA-AG-A036-01 LARGE INTESTINE c.3235G>A p.D1079N COSMIC PASSENGER/OTHER Possibly Damaging 173 TCGA-AN-A0AR-01 BREAST c.349C>A p.L117M COSMIC PASSENGER/OTHER Probably Damaging 174 TCGA-AN-A0FL-01 BREAST c.2815G>C p.E939Q COSMIC PASSENGER/OTHER Benign 175 TCGA-AP-A051-01 ENDOMETRIUM c.1052C>T p.A351V COSMIC PASSENGER/OTHER Benign 176 TCGA-AP-A051-01 ENDOMETRIUM c.2379C>A p.T793T COSMIC NP NP 177 TCGA-AP-A051-01 ENDOMETRIUM c.3091C>T p.R1031C COSMIC PASSENGER/OTHER Possibly Damaging 178 TCGA-AP-A051-01 ENDOMETRIUM c.4283G>A p.S1428N COSMIC NP NP 179 TCGA-AP-A051-01 ENDOMETRIUM c.796C>T p.R266* COSMIC NP NP 180 TCGA-AP-A054-01 ENDOMETRIUM c.1475T>G p.I492S COSMIC PASSENGER/OTHER Probably Damaging 181 TCGA-AP-A056-01 ENDOMETRIUM c.2049T>C p.C683C COSMIC NP NP 182 TCGA-AP-A059-01 ENDOMETRIUM c.1883A>G p.D628G COSMIC PASSENGER/OTHER Possibly Damaging 183 TCGA-AP-A059-01 ENDOMETRIUM c.2662C>T p.L888F COSMIC PASSENGER/OTHER Probably Damaging 184 TCGA-AP-A0LM-01 ENDOMETRIUM c.3016G>A p.A1006T COSMIC PASSENGER/OTHER Benign 185 TCGA-AP-A0LM-01 ENDOMETRIUM c.3235G>A p.D1079N COSMIC PASSENGER/OTHER Possibly Damaging 186 TCGA-AP-A0LM-01 ENDOMETRIUM c.851G>A p.G284D COSMIC PASSENGER/OTHER Benign 187 TCGA-AR-A0U2-01 BREAST c.735G>A p.G245G COSMIC NP NP 188 TCGA-AX-A05S-01 ENDOMETRIUM c.2086C>T p.R696W COSMIC PASSENGER/OTHER Probably Damaging 189 TCGA-AX-A05Z-01 ENDOMETRIUM c.2678G>A p.R893Q COSMIC PASSENGER/OTHER Benign 190 TCGA-AX-A05Z-01 ENDOMETRIUM c.4221G>T p.K1407N COSMIC PASSENGER/OTHER Probably Damaging 191 TCGA-AX-A0J0-01 ENDOMETRIUM c.1790A>C p.Q597P COSMIC PASSENGER/OTHER Benign 192 TCGA-AX-A0J0-01 ENDOMETRIUM c.1912G>T p.E638* COSMIC NP NP 193 TCGA-AX-A0J1-01 ENDOMETRIUM c.4478G>T p.S1493I COSMIC NP NP 194 TCGA-AZ-4315-01 LARGE INTESTINE c.1808G>A p.R603Q COSMIC PASSENGER/OTHER Possibly Damaging 195 TCGA-B0-5094-01 KIDNEY c.1609G>A p.V537I COSMIC PASSENGER/OTHER Benign 196 TCGA-B5-A0JY-01 ENDOMETRIUM c.2345G>A p.R782Q COSMIC PASSENGER/OTHER Benign 197 TCGA-B5-A0JY-01 ENDOMETRIUM c.2946G>T p.K982N COSMIC PASSENGER/OTHER Benign 198 TCGA-B5-A0JY-01 ENDOMETRIUM c.339A>C p.K113N COSMIC PASSENGER/OTHER Possibly Damaging 199 TCGA-B5-A11E-01 ENDOMETRIUM c.2454G>T p.R818R COSMIC NP NP 200 TCGA-B5-A11N-01 ENDOMETRIUM c.2678G>A p.R893Q COSMIC PASSENGER/OTHER Benign 201 TCGA-BP-4981-01 KIDNEY c.1578T>C p.F526F COSMIC NP NP 202 TCGA-BS-A0U8-01 ENDOMETRIUM c.3041G>A p.G1014D COSMIC PASSENGER/OTHER Benign 203 TCGA-BT-A20N-01 URINARY TRACT c.3697C>T p.L1233F COSMIC PASSENGER/OTHER Probably Damaging 204 TCGA-CA-6717-01 LARGE INTESTINE c.1943G>A p.R648Q COSMIC PASSENGER/OTHER Benign 205 TCGA-CJ-5683-01 KIDNEY c.878T>C p.L293P COSMIC PASSENGER/OTHER Probably Damaging 206 TCGA-CK-5913-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 207 TCGA-CK-5913-01 LARGE INTESTINE c.692G>A p.S231N COSMIC PASSENGER/OTHER Benign 208 TCGA-D1-A0ZO-01 ENDOMETRIUM c.2161C>A p.P721T COSMIC PASSENGER/OTHER Benign 209 TCGA-D1-A103-01 ENDOMETRIUM c.2821G>A p.A941T COSMIC PASSENGER/OTHER Benign 210 TCGA-D1-A103-01 ENDOMETRIUM c.645G>A p.P215P COSMIC NP NP 211 TCGA-D1-A15X-01 ENDOMETRIUM c.984T>C p.P328P COSMIC NP NP 212 TCGA-D1-A163-01 ENDOMETRIUM c.2022G>A p.R674R COSMIC NP NP 213 TCGA-D1-A167-01 ENDOMETRIUM c.1268C>T p.P423L COSMIC PASSENGER/OTHER Probably Damaging 214 TCGA-D1-A16J-01 ENDOMETRIUM c.498C>G p.L166L COSMIC NP NP 215 TCGA-D1-A17B-01 ENDOMETRIUM c.1991_1993delAAG p.E664delE COSMIC NP NP 216 TCGA-D5-6532-01 LARGE INTESTINE c.3686T>C p.L1229P COSMIC PASSENGER/OTHER Probably Damaging 217 TCGA-D5-6541-01 LARGE INTESTINE c.5040T>A p.A1680A COSMIC NP NP 218 TCGA-D5-6928-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 219 TCGA-D5-6928-01 LARGE INTESTINE c.4170G>A p.M1390I COSMIC PASSENGER/OTHER Possibly Damaging 220 TCGA-DC-5337-01 LARGE INTESTINE c.4994A>G p.D1665G COSMIC NP NP 221 TCGA-DC-5869-01 LARGE INTESTINE c.1902G>A p.M634I COSMIC PASSENGER/OTHER Benign 222 TCGA-DR-A0ZM-01 CERVIX c.797G>A p.R266Q COSMIC PASSENGER/OTHER Benign 223 TCGA-DR-A0ZM-01 CERVIX c.955C>G p.H319D COSMIC CANCER Probably Damaging 224 TCGA-DY-A1DC-01 LARGE INTESTINE c.4211C>A p.S1404Y COSMIC PASSENGER/OTHER Probably Damaging 225 TCGA-FD-A3B5-01 URINARY TRACT c.2716G>T p.E906* COSMIC NP NP 226 TCGA-FD-A3B8-01 URINARY TRACT c.3493A>G p.I1165V COSMIC PASSENGER/OTHER Benign 227 TCGA-G4-6304-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 228 TCGA-G4-6586-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 229 TCGA-G4-6588-01 LARGE INTESTINE c.3597delA p.G1200fs*9 COSMIC NP NP 230 TCGA-G9-6371-01 PROSTATE c.3515G>T p.G1172V COSMIC CANCER Probably Damaging 231 U251 CENTRAL NERVOUS SYSTEM c.3365A>G p.D1122G COSMIC PASSENGER/OTHER Probably Damaging 232 WA13 PROSTATE c.3470G>A p.R1157H COSMIC CANCER Benign 233 pfg008T STOMACH c.2034A>G p.A678A COSMIC NP NP 234 pfg016T STOMACH c.3597delA p.G1200fs*9 COSMIC NP NP
*NP: Not Predicted -
Copy number variation and expression profile (+)
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Gene Essentiality Data (+)
Note: Lower the GARP score (more negative), higher the essentiality of the gene. P-value tells about the significane of GARP score.test -
Tertiary structure (+)
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Structure Domains (+)
1. PFAM Domains:Domain ID Domain Name Start Site End Site E-value PF02375 JmjN 20 53 1.2e-13 PF01388 ARID 82 170 6.1e-24 PF00628 PHD 295 342 3.3e-12 PB006766 Pfam-B_6766 309 344 1e-09 PF02373 JmjC 470 586 2.7e-45 PF02928 zf-C5HC2 676 729 1.4e-17 PF08429 PLU-1 740 1072 2.1e-100 PF00628 PHD 1163 1217 9.7e-11 PB000113 Pfam-B_113 1208 1271 3.8e-19 PB012821 Pfam-B_12821 1464 1526 0.00046 PB011260 Pfam-B_11260 1576 1661 2.9e-09 -
Sequence Alignment (+)
Users must enabled the Java in their browser to see sequence alignments.
Users can also download Java from here.1. Sequence alignment with 1000 genome variations:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 2. Sequence alignment with CCLE mutants:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 3. Sequence alignment with COSMIC mutants:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 4. Sequence alignment with homologus proteins:
Click on button to get Sequence alignment with Coverage, Consensus and Quality -
Sequence Profiles (+)
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Post Translational Modifications (+)
S. No. Position Amino acid Type 1 1111 S Phosphorylation 2 1111 S Phosphorylation 3 1329 S Phosphorylation 4 1330 S Phosphorylation 5 1331 S Phosphorylation 6 1331 S Phosphorylation 7 1343 T Phosphorylation 8 1343 T Phosphorylation 9 1345 S Phosphorylation 10 1345 S Phosphorylation 11 1382 K Sumoylation 12 1423 S Phosphorylation 13 148 Y Phosphorylation 14 1488 S Phosphorylation 15 1598 S Phosphorylation 16 1598 S Phosphorylation 17 1603 S Phosphorylation 18 1603 S Phosphorylation 19 1666 S Phosphorylation 20 1666 S Phosphorylation 21 1679 Y Phosphorylation 22 425 K Ubiquitylation 23 46 T Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR KDM5A KDM5A KDM5A ENSP00000382688 P29375 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt P29375 KDM5A ENSP00000382688 KDM5A P29375 Expression Atlas Protein Atlas OMIM IntAct PharmGKB KDM5A ENSP00000382688 180202 P29375 PA34250
